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- W2088478886 abstract "Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a DNA duplication on chromosome 17p11.2-p12 in the majority of cases. Most of the sporadic cases are due to a de novo duplication. We have screened for this duplication in 11 Danish patients with CMT type 1, using four different techniques, and identified a de novo duplication in a sporadic case. Analysis of the fully informative pVAW409R3a alleles in this family showed the duplication to be of paternal origin." @default.
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- W2088478886 date "2008-06-28" @default.
- W2088478886 modified "2023-09-24" @default.
- W2088478886 title "Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication" @default.
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- W2088478886 doi "https://doi.org/10.1111/j.1399-0004.1994.tb04162.x" @default.
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